Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41518645
rs41518645
CYTB ; ND6
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation BEFREE Non-synonymous substitutions (F33 L and D171N) and Indel mutations were observed for Cytochrome B gene, leading to a truncated protein, where anemia, malfunctioning of most of the vital organs as liver, kidney and mineral status was observed and debility with exercise intolerance and cardiomyopathy in extreme cases were depicted. 30660753

2019